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1 . Academic Journal
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome
저자
by
Abdin, D.
;
Rump, A.
;
Tzschach, A.
;
Sarnow, K.
;
Schröck, E.
, et al.
소스
In
European Journal of Medical Genetics
December 2019 62(12)
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7 . Academic Journal
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
저자
by
Jahn, A.
;
Rump, A.
;
Widmann, T.J.
;
Heining, C.
;
Horak, P.
, et al.
소스
Annals of Oncology
. Nov2022, Vol. 33 Issue 11, p1186-1199. 14p.
Full Text (개별구독저널)
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7 . Academic Journal
Interstitial deletion 1p36.32 in two brothers with a distinct phenotype – Overgrowth, macrocephaly and nearly normal intellectual function
저자
by
Di Donato, N.
;
Klink, B.
;
Hahn, G.
;
Schrock, E.
;
Hackmann, K.
.
소스
In
European Journal of Medical Genetics
September 2014 57(9):494-497
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7 . Academic Journal
Distinct phenotype of PHF6 deletions in females
저자
by
Di Donato, N.
;
Isidor, B.
;
Lopez Cazaux, S.
;
Le Caignec, C.
;
Klink, B.
, et al.
소스
In
European Journal of Medical Genetics
February 2014 57(2-3):85-89
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7 . Academic Journal
A further patient with van Maldergem syndrome
저자
by
Neuhann, T.M.
;
Müller, D.
;
Hackmann, K.
;
Holzinger, S.
;
Schrock, E.
, et al.
소스
In
European Journal of Medical Genetics
June-July 2012 55(6-7):423-428
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7 . Academic Journal
P.2.c.041 Biomarkers for the combined efficacy of cognitive behavioural therapy in antidepressant treatment in depression
저자
by
Nocon, A.
;
Hackmann, K.
;
Pfister, H.
;
Heldmann, B.
;
Rosenhagen, M.
, et al.
소스
In
European Neuropsychopharmacology
2009 19 Supplement 3:S427-S427
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7 . Academic Journal
Macrocephaly, Obesity, Mental (Intellectual) Disability, and Ocular Abnormalities: Alternative Definition and Further Delineation of MOMO Syndrome
저자
by
Di Donato, N.
;
Riess, A.
;
Hackmann, K.
;
Rump, A.
;
Huebner, A.
, et al.
소스
American Journal Of Medical Genetics - A
. Nov 01, 2012 158A(11):2857-2862
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7 . Periodical
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
저자
by
Rath, M.
;
Najm, J.
;
Sirb, H.
;
Kentouche, K.
;
Dufke, A.
, et al.
소스
Hämostaseologie; January 2015, Vol. 35 Issue: 1, Number 1 Supplement 1 pS36-S42, 7p
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7 . Academic Journal
A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability
저자
by
Tyshchenko, N.
;
Neuhann, T. M.
;
Gerlach, E.
;
Hahn, G.
;
Heisch, K.
, et al.
소스
American Journal Of Medical Genetics - A
. Sep 01, 2011 155(9):2060-2065
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7 . Academic Journal
Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia
저자
by
Gerber, J. C.
;
Neuhann, T. M.
;
Tyshchenko, N.
;
Smitka, M.
;
Hackmann, K.
.
소스
American Journal Of Medical Genetics - A
. Aug 01, 2011 155(8):1981-1986
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